Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L2776*
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BRCA2

NM_000059.4:p.L2776*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

ElBiad O et al.

Bmc Cancer, 2022

Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.

Nurmi A et al.

International Journal of Cancer, 2019

30927251 (PubMed )
Supplement: IJC-145-2692-s001.pdf

Two founder BRCA2 mutations predispose to breast cancer in young women.

Infante M et al.

Breast Cancer Research and Treatment, 2010

A low proportion of BRCA2 mutations in Finnish breast cancer families.

Vehmanen P et al.

American Journal of Human Genetics, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."